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Details for EGF:c.1813G>C, p.Val605Leu

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
110895947	109974791

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1813G>C

PROTEIN CHANGE

p.Val605Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.002825	Polymorphism

DBSNP ID

1 combination linked to EGF:c.1813G>C, p.Val605Leu

1 disease linked to EGF:c.1813G>C, p.Val605Leu

Kallmann syndrome

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